FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2915767983> ?p ?o ?g. }

• W2915767983 endingPage "524" @default.
• W2915767983 startingPage "515" @default.
• W2915767983 abstract "Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with bi-allelic pathogenic variants in MTFMT.Retrospective cohort study combining new cases and previously published cases.Thirty-eight patients with pathogenic variants in MTFMT were identified, including eight new cases. The median age of presentation was 14 months (range: birth to 17 years, interquartile range [IQR] 4.5 years), with developmental delay and motor symptoms being the most frequent initial manifestation. Twenty-nine percent of the patients survived into adulthood. MRI headings in MTFMT pathogenic variants included symmetrical basal ganglia changes (62%), periventricular and subcortical white matter abnormalities (55%), and brainstem lesions (48%). Isolated complex I and combined respiratory chain deficiencies were identified in 31% and 59% of the cases, respectively. Reduction of the mitochondrial complex I and complex IV subunits was identified in the fibroblasts (13/13). Sixteen pathogenic variants were identified, of which c.626C>T was the most common. Seventy-four percent of the patients were alive at their last clinical review (median 6.8 years, range: 14 months to 31 years, IQR 14.5 years).Patients that harbour pathogenic variants in MTFMT have a milder clinical phenotype and disease progression compared to LS caused by other nuclear defects. Fibroblasts may preclude the need for muscle biopsy, to prove causality of any novel variant." @default.
• W2915767983 created "2019-03-02" @default.
• W2915767983 creator A5006400472 @default.
• W2915767983 creator A5009642134 @default.
• W2915767983 creator A5017648214 @default.
• W2915767983 creator A5018057407 @default.
• W2915767983 creator A5019867523 @default.
• W2915767983 creator A5019967690 @default.
• W2915767983 creator A5022824964 @default.
• W2915767983 creator A5022855412 @default.
• W2915767983 creator A5029709992 @default.
• W2915767983 creator A5038531865 @default.
• W2915767983 creator A5040479770 @default.
• W2915767983 creator A5044816818 @default.
• W2915767983 creator A5045791231 @default.
• W2915767983 creator A5046887961 @default.
• W2915767983 creator A5047836141 @default.
• W2915767983 creator A5048139897 @default.
• W2915767983 creator A5053195810 @default.
• W2915767983 creator A5053767923 @default.
• W2915767983 creator A5054257533 @default.
• W2915767983 creator A5055351264 @default.
• W2915767983 creator A5057387947 @default.
• W2915767983 creator A5058641127 @default.
• W2915767983 creator A5060930132 @default.
• W2915767983 creator A5061896629 @default.
• W2915767983 creator A5070009054 @default.
• W2915767983 creator A5070185101 @default.
• W2915767983 creator A5071473328 @default.
• W2915767983 creator A5081491480 @default.
• W2915767983 creator A5085488468 @default.
• W2915767983 date "2019-02-17" @default.
• W2915767983 modified "2023-10-16" @default.
• W2915767983 title "Leigh syndrome caused by mutations in <i> <scp>MTFMT</scp> </i> is associated with a better prognosis" @default.
• W2915767983 cites W1515247384 @default.
• W2915767983 cites W2009272245 @default.
• W2915767983 cites W2039669779 @default.
• W2915767983 cites W2059282884 @default.
• W2915767983 cites W2065665498 @default.
• W2915767983 cites W2084325654 @default.
• W2915767983 cites W2095626761 @default.
• W2915767983 cites W2112597203 @default.
• W2915767983 cites W2140483630 @default.
• W2915767983 cites W2148403822 @default.
• W2915767983 cites W2160827160 @default.
• W2915767983 cites W2163219056 @default.
• W2915767983 cites W2167627444 @default.
• W2915767983 cites W2208605840 @default.
• W2915767983 cites W2416970752 @default.
• W2915767983 cites W2470286673 @default.
• W2915767983 cites W2520894026 @default.
• W2915767983 cites W2765889782 @default.
• W2915767983 cites W2768064149 @default.
• W2915767983 cites W2790701360 @default.
• W2915767983 cites W2791762984 @default.
• W2915767983 cites W2887578203 @default.
• W2915767983 doi "https://doi.org/10.1002/acn3.725" @default.
• W2915767983 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6414492" @default.
• W2915767983 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30911575" @default.
• W2915767983 hasPublicationYear "2019" @default.
• W2915767983 type Work @default.
• W2915767983 sameAs 2915767983 @default.
• W2915767983 citedByCount "17" @default.
• W2915767983 countsByYear W29157679832019 @default.
• W2915767983 countsByYear W29157679832020 @default.
• W2915767983 countsByYear W29157679832021 @default.
• W2915767983 countsByYear W29157679832022 @default.
• W2915767983 countsByYear W29157679832023 @default.
• W2915767983 crossrefType "journal-article" @default.
• W2915767983 hasAuthorship W2915767983A5006400472 @default.
• W2915767983 hasAuthorship W2915767983A5009642134 @default.
• W2915767983 hasAuthorship W2915767983A5017648214 @default.
• W2915767983 hasAuthorship W2915767983A5018057407 @default.
• W2915767983 hasAuthorship W2915767983A5019867523 @default.
• W2915767983 hasAuthorship W2915767983A5019967690 @default.
• W2915767983 hasAuthorship W2915767983A5022824964 @default.
• W2915767983 hasAuthorship W2915767983A5022855412 @default.
• W2915767983 hasAuthorship W2915767983A5029709992 @default.
• W2915767983 hasAuthorship W2915767983A5038531865 @default.
• W2915767983 hasAuthorship W2915767983A5040479770 @default.
• W2915767983 hasAuthorship W2915767983A5044816818 @default.
• W2915767983 hasAuthorship W2915767983A5045791231 @default.
• W2915767983 hasAuthorship W2915767983A5046887961 @default.
• W2915767983 hasAuthorship W2915767983A5047836141 @default.
• W2915767983 hasAuthorship W2915767983A5048139897 @default.
• W2915767983 hasAuthorship W2915767983A5053195810 @default.
• W2915767983 hasAuthorship W2915767983A5053767923 @default.
• W2915767983 hasAuthorship W2915767983A5054257533 @default.
• W2915767983 hasAuthorship W2915767983A5055351264 @default.
• W2915767983 hasAuthorship W2915767983A5057387947 @default.
• W2915767983 hasAuthorship W2915767983A5058641127 @default.
• W2915767983 hasAuthorship W2915767983A5060930132 @default.
• W2915767983 hasAuthorship W2915767983A5061896629 @default.
• W2915767983 hasAuthorship W2915767983A5070009054 @default.
• W2915767983 hasAuthorship W2915767983A5070185101 @default.
• W2915767983 hasAuthorship W2915767983A5071473328 @default.
• W2915767983 hasAuthorship W2915767983A5081491480 @default.
• W2915767983 hasAuthorship W2915767983A5085488468 @default.

• next